Primary Site >> Liver Cancer
Gene >> CHAT
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000337653 |
| Start | 49646579:49646579(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs536359684 |
| CDS Mutation | c.1186G>A |
| AA Mutation | p.Val396Met(p.V396M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000337653 |
| Start | 49664867:49664867(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2068C>A |
| AA Mutation | p.Leu690Ile(p.L690I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000337653 |
| Start | 49649543:49649543(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1418C>A |
| AA Mutation | p.Ser473Tyr(p.S473Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000337653 |
| Start | 49619757:49619757(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.420G>C |
| AA Mutation | p.Gln140His(p.Q140H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000337653 |
| Start | 49664995:49664995(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2196A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000337653 |
| Start | 49655209:49655209(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs201580702 |
| CDS Mutation | c.1749C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000337653 |
| Start | 49627696:49627696(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1023delC |
| AA Mutation | p.Asn342ThrfsTer12(p.N342Tfs*12) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |